CPT1C

Overview

CPT1C (Carnitine Palmitoyltransferase 1C) encodes a brain-specific isoform of the carnitine palmitoyltransferase family involved in fatty acid oxidation and energy metabolism. It was identified as a significantly mutated gene in African American colorectal cancers, suggesting an ethnicity-associated role in CRC.

Alterations observed in the corpus

• Identified as a significantly mutated gene in African American colorectal cancers in both discovery and validation cohorts (103 AA vs. 129 Caucasian CRC samples); part of the 20-gene panel preferentially mutated in AA CRCs PMID:25583493

Cancer types (linked)

• Colorectal cancer: identified in a significantly mutated gene panel enriched in African American CRC patients PMID:25583493

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

• Functional significance of CPT1C mutations in AA CRC has not been experimentally validated PMID:25583493

Sources

• PMID:25583493

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